Clinical and Genetic Findings from a Rare Pediatric Diseases Outpatient Clinic in Curitiba, Brazil

Introduction: Rare diseases are chronic, progressive conditions with a low frequency of occurrence in the population. They can be divided into two groups: diseases of genetic origin and of non-genetic origin. Currently, molecular genetic tests are widely used to screen and diagnose patients with rare diseases. This study aims to describe the genetic/clinical profile of patients seen at the Rare Diseases Outpatient Clinic of a referral pediatric hospital in southern Brazil. Methodology: This retrospective descriptive quantitative study looked into data from paper and electronic medical charts of patients seen at the Rare Diseases Outpatient Clinic and genetic test results of included patients stored in the platform of the hospital’s Clinical Analysis Laboratory. Results and Discussion: The study included 553 patient medical charts. Prevalence of male patients and aged between zero and 11 years was greater. The most commonly reported symptoms were dysmorphisms and congenital malformations (12.5%), developmental delay (11.0%) and seizures (10.5%). Only 24.7% of the molecular genetic tests presented altered results. Alterations were more notably seen in genes PHKA2, G6PC, FBP1, and CTNS. The number of altered test results was lower than expected. The greater availability and popularization of these tests can be noticed by the increase in the number of tests ordered. Increased awareness about molecular genetic testing is very positive and may help healthcare teams improve patient quality of life.